Results 341 to 350 of about 7,162,706 (382)

Gene dosage imbalances: action, reaction, and models.

Trends in Biochemical Sciences, 2015
Single-gene deletions, duplications, and misregulation, as well as aneuploidy, can lead to stoichiometric imbalances within macromolecular complexes and cellular networks, causing their malfunction. Such alterations can be responsible for inherited or somatic genetic disorders including Mendelian diseases, aneuploid syndromes, and cancer. We review the
R. Veitia, M. Potier
semanticscholar   +5 more sources

Gene dosage and pathogenesis of Parkinson's disease

Trends in Molecular Medicine, 2005
Four recent papers related specifically to the familial form of Parkinson's disease reinforce the idea that endogenous levels of alpha-synuclein can strongly influence disease phenotype. Two recent publications of alpha-synuclein-duplication mutations show that the severity of familial Parkinsonian phenotype is dependent upon SNCA gene dosage and ...
Leonard Petrucelli, Serge Przedborski, Jason L. Eriksen   +2 more
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Gene Dosage Compensation in Drosophila Melanogaster

1987
The comparative lack of sexual dimorphism of apricot and other [sex-linked] genes studied is due to "sex-limitation", i.e., to a compensatory influence of the dosage difference between the sexes in respect to other genes in the X-chromosome. The facts are of particular interest from an evolutionary standpoint.
John C. Lucchesi, Jerry E. Manning
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The Gene Balance Hypothesis: Dosage Effects in Plants

2014
The concept of genomic balance traces to the early days of genetics. In recent years, studies of gene expression have found parallels to the classical phenotypic studies in that aneuploid changes have greater effects than whole genome changes. This has an explanation in terms of potential stoichiometric imbalances of the gene products encoded in the ...
Birchler, James A, Veitia, Reiner A
openaire   +4 more sources

Gene dosage effects in chronic lymphocytic leukemia

Cancer Genetics and Cytogenetics, 2010
To understand the influence of chromosomal alterations on gene expression in a genome-wide view, chromosomal imbalances detected by single nucleotide polymorphism (SNP) chips were compared with global gene expression in 16 cases of chronic lymphocytic leukemia (CLL).
Sellmann L, Scholtysik R, Kreuz M, Cyrull S, TIACCI, Enrico, Stanelle J, Carpinteiro A, Nückel H, Boes T, Gesk S, Siebert R, Klein Hitpass L, Dührsen U, Dürig J, Küppers R.   +14 more
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Regulation of MAL gene expression in yeast: Gene dosage effects

Molecular and General Genetics MGG, 1987
Both the MAL1 and MAL6 loci in Saccharomyces strains have been shown by functional and structural studies to comprise a cluster of at least three genes necessary for maltose utilization. They include regulatory, maltose transport and maltase genes designated MALR, MALT and MALS, respectively.
Goldenthal, M, VANONI, MARCO ERCOLE, Buchferer, B, Marmur, J.   +3 more
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Dosage sensitivity and the evolution of gene families in yeast

Nature, 2003
According to what we term the balance hypothesis, an imbalance in the concentration of the subcomponents of a protein-protein complex can be deleterious. If so, there are two consequences: first, both underexpression and overexpression of protein complex subunits should lower fitness, and second, the accuracy of transcriptional co-regulation of ...
Papp, Balazs, Papp, Balázs, Pál, Csaba, Hurst, Laurence D.   +3 more
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Gene Dosage Effect in Chorionic Villi

1985
Gene dosage effect (GDE) has been demonstrated mainly in red blood cells, but leukocytes and cultured fibroblasts are also suitable for studying variations in enzymatic activities due to monosomy or trisomy of specific chromosomal regions (Ferguson-Smith and Aitken 1982).
DANESINO, CESARE, MINELLI, ANTONELLA, Rossella F.   +2 more
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CNS myelination and PLP gene dosage

Pharmacogenomics, 2001
The phenomenon of gene dosage effects demonstrates that the mechanisms of some genetic diseases are best recognised at the genomic level. Classical gene mutation screening approaches utilising PCR are unsuccessful in unravelling the basis of disease because the gene sequence is unaltered and only the copy number is different.
Karen Woodward, Sue Malcolm
openaire   +2 more sources

Gene dosage and susceptibility to insulin‐dependent diabetes

Annals of Human Genetics, 1980
Summary1. All members of 33 families in which two or more sibs have insulin‐dependent diabetes mellitus (IDDM) were HLA‐typed. The results strongly support the hypothesis that, closely linked to the HLA region, there is a locus (S) for susceptibility to IDDM.
Chester M. Zmijewski, Lester Baker, Richard S. Spielman   +2 more
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